ESD esterase D [Homo sapiens (human)] - Gene

Summary

Official Symbol: ESDprovided by HGNC
Official Full Name: esterase Dprovided by HGNC
Primary source: HGNC:HGNC:3465
See related: Ensembl:ENSG00000139684 MIM:133280; AllianceGenome:HGNC:3465
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FGH
Summary: This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]
Expression: Ubiquitous expression in thyroid (RPKM 31.6), ovary (RPKM 31.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (46771256..46797700, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (45992477..46018921, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (47345391..47371296, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Esterase D interacts with metallothionein 2A and inhibits the migration of A549 lung cancer cells in vitro.
Title: Esterase D interacts with metallothionein 2A and inhibits the migration of A549 lung cancer cells in vitro.
rs7996797 located on chr13q14.1-q14.2 near the ESD gene was the most significantly associated with hallux valgus in females in genome-wide association meta-analyses.
Title: Genome-wide association meta-analyses to identify common genetic variants associated with hallux valgus in Caucasian and African Americans.
Abhydrolase domain-containing protein 11 and Esterase D predict the development of distant metastases and the presence of aggressive lung adenocarcinomas.
Title: Activity-based proteomics: identification of ABHD11 and ESD activities as potential biomarkers for human lung adenocarcinoma.
catalytic triad residues--Ser-153, His264, and Asp230--involved in catalysis. Mutagenesis of any of the catalytic triad residues to alanine abolished the enzyme activity. Backbone amides of Leu54 & Met150 are involved in the formation of the oxyanion hole
Title: Crystal structure of human esterase D: a potential genetic marker of retinoblastoma.
Autoantibodies to EsteD and BB-CK produced in experimental autoimmune uveoretinitis -induced mice were also detected in some endogenous uveitis patients, suggesting that these proteins might be autoantigens.
Title: Proteomic surveillance of retinal autoantigens in endogenous uveitis: implication of esterase D and brain-type creatine kinase as novel autoantigens.
Observational study of genotype prevalence. (HuGE Navigator)
Title: [Genetic polymorphism of erythrocytic enzymes in Yakut populations].
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
The analysis involved the data on nine polymorphic codominant loci: HP, GC, TF, PI, PGM1, GLO1, C3, ACP1, and ESD. The loci were selected by significance of differences in genotype frequencies between tuberculosis patients and healthy controls
Title: [The use of discrete characters in discriminant analysis for diagnosis of pulmonary tuberculosis and for classification of patients differing in treatment efficiency based on polymorphisms at nine codominant loci-HP, GC, TF, PI, PGM1, GLO1, C3, ACP1 and ESD].

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human esterase D (ESD; S-formylglutathione hydrolase) at amino acid residues 76-77 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-M13450 (e-PCR)
- UniSTS:4682

RH47230 (e-PCR)
- UniSTS:70003

D13S1674 (e-PCR)
- UniSTS:33953

STS-T64482 (e-PCR)
- UniSTS:26538

SHGC-30741 (e-PCR)
- UniSTS:66558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables S-formylglutathione hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carboxylic ester hydrolase activity	NAS Non-traceable Author Statement more info	PubMed
enables hydrolase activity, acting on ester bonds	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables methylumbelliferyl-acetate deacetylase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in formaldehyde catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed

General protein information

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Preferred Names: S-formylglutathione hydrolase

Names: esterase 10; esterase D/formylglutathione hydrolase; methylumbelliferyl-acetate deacetylase; testicular tissue protein Li 66

NP_001975.1

EC 3.1.1.56

EC 3.1.2.12

XP_005266335.1

EC 3.1.1.56

EC 3.1.2.12

XP_011533256.1

EC 3.1.1.56

EC 3.1.2.12

XP_054230137.1

EC 3.1.1.56

EC 3.1.2.12

XP_054230138.1

EC 3.1.1.56

EC 3.1.2.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.